高通量测序技术检测非小细胞肺癌相关驱动基因的突变
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江苏大学临床医学科技发展基金(JLY2018 0004)


High⁃throughput sequencing of driver gene mutations in non⁃small cell lung cancer
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    摘要:

    目的:探讨高通量测序技术在非小细胞肺癌驱动基因检测中的应用。方法:应用 Ion Torrent 高通量测序平台,检测150例非小细胞肺癌(non-small-cell lung cancer,NSCLC)患者EGFR、KRAS、BRAF、NRAS、Her-2和PIK3CA基因突变,并利用Sanger 测序法和微滴式数字PCR(droplet digital PCR,ddPCR)法检测150例NSCLC患者EGFR基因突变,对结果进行对比分析。结果:EGFR、KRAS、BRAF、NRAS、Her-2和PIK3CA基因突变检出率分别为51.33%(77/150)、7.33%(11/150)、1.33%(2/150)、1.33%(2/150)、2.00%(3/150)和4.67%(7/150)。57例标本未检出任何基因突变,84例标本检出单个驱动基因发生突变。9例标本检出2个及以上驱动基因发生突变。Sanger测序法检测EGFR基因突变,突变检出率为38.67%(58/150),与高通量测序法比较,差异有统计学意义(χ2=4.862,P=0.027),高通量测序法的灵敏度为98.28%,特异度为78.26%。ddPCR法突变检出率为50.00%(75/150),与高通量测序法比较,差异无统计学意义(χ2=0.053,P=0.818),阳性一致率为82.67%,阴性一致率为80.00%,总一致率为81.33%。结论:高通量测序法更适合应用于NSCLC诊疗,Sanger测序法和ddPCR法可作为有益的补充。

    Abstract:

    Objective:This study aims to investigate the value of detecting driver gene mutations in non-small cell lung cancer(NSCLC) patients using next-generation sequencing(NGS) technology. Methods:Somatic mutations in 150 NSCLC patients including EGFR,KRAS,BRAF,NRAS,Her-2 and PIK3CA were detected by Ion torrent personal genome machine(PGM). Sanger sequencing and ddPCR was used to test and verify the results of EGFR gene mutations. Results:According to NGS results,mutations were detected in EGFR(51.33%,77/150),KRAS(7.33%,11/150),BRAF(1.33%,2/150),NRAS(1.33%,2/150),Her-2(2%,3/150)and PIK3CA(4.67%,7/150). There were 57 samples without any somatic mutations in all genes,84 samples had one or more mutations in single gene,while 9 samples harboured mutations in two or more genes. The overall detection rate of EGFR mutation by NGS and Sanger sequencing was 51.33%(77/150)and 38.67%(58/150). The difference between the two methods was statistically significant(χ2=4.862,P=0.027). Compared to Sanger sequencing,the sensitivity and specificity of NGS assays was 98.28% and 78.26%,respectively. The overall detection rate of EGFR mutation by NGS and ddPCR was 51.33%(77/150)and 50%(75/150). There was no significant difference between the two methods(χ2=0.053,P=0.818). Compared to ddPCR,the positive concordance rate was 82.67%,the negative consistency rate was 80%,and the total concordance rate was 81.33%. Conclusion:Next-generation sequencing technology is more suitable for the diagnosis and treatment of NSCLC. Sanger sequencing and ddPCR can be useful supplements.

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严晓娣,史国振,毛旭华.高通量测序技术检测非小细胞肺癌相关驱动基因的突变[J].南京医科大学学报(自然科学版),2021,(2):193-197

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  • 收稿日期:2020-07-08
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  • 在线发布日期: 2021-03-10
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